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Metadata
ID DOID:0070402
Name hypomyelinating leukodystrophy 22
Definition A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26.
https://pubmed.ncbi.nlm.nih.gov/33313762/
Xrefs

MIM:619328

Synonyms

HLD22 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a hypomyelinating leukodystrophy

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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